TNRC18

trinucleotide repeat containing 18

Basic information

Region (hg38): 7:5306790-5425414

Links

ENSG00000182095 ∙ NCBI:84629 ∙ ∙ HGNC:11962 ∙ Uniprot:O15417 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TNRC18 gene.

• not_specified (654 variants)
• not_provided (111 variants)
• TNRC18-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNRC18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080495.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				50	23	73
missense			626	29	12	667
nonsense			1			1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	628	79	35

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TNRC18	protein_coding	protein_coding	ENST00000430969	29	118625

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.991	0.00907	124619	0	12	124631	0.0000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.262	1647	1.62e+3	1.02	0.000114	18328
Missense in Polyphen		404	388.84	1.039		4619
Synonymous	-7.12	1004	755	1.33	0.0000611	6321
Loss of Function	6.91	16	84.6	0.189	0.00000404	1148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000866	0.0000646
Ashkenazi Jewish	0.000104	0.0000993
East Asian	0.0000557	0.0000556
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.0000686	0.0000619
Middle Eastern	0.0000557	0.0000556
South Asian	0.00	0.00
Other	0.000167	0.000165

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.550
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.606

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Tnrc18

Gene ontology

• Cellular component: nucleus;nucleoplasm;mitochondrion;cytosol;nuclear membrane
• Molecular function: chromatin binding